The Human Lipodystrophy Gene BSCL2/Seipin May Be Essential for Normal Adipocyte Differentiation, Diabetes, vol.57, issue.8, pp.2055-60, 2008. ,
DOI : 10.2337/db08-0184
The Human Lipodystrophy Gene Product Berardinelli-Seip Congenital Lipodystrophy 2/Seipin Plays a Key Role in Adipocyte Differentiation, Endocrinology, vol.150, issue.10, pp.4552-61, 2009. ,
DOI : 10.1210/en.2009-0236
Association of a Homozygous Nonsense Caveolin-1 Mutation with Berardinelli-Seip Congenital Lipodystrophy, The Journal of Clinical Endocrinology & Metabolism, vol.93, issue.4, pp.1129-1163, 2008. ,
DOI : 10.1210/jc.2007-1328
Seipin deficiency alters fatty acid ??9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy, Biochimie, vol.91, issue.6, pp.796-803, 2009. ,
DOI : 10.1016/j.biochi.2009.01.011
Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy, Journal of Clinical Investigation, vol.119, issue.9, pp.2623-2656, 2009. ,
DOI : 10.1172/JCI38660DS1
Insulin-mediated pseudoacromegaly: clinical and biochemical characterization of a syndrome of selective insulin resistance, J Clin Endocrinol Metab, vol.76, pp.1533-1574, 1993. ,
Postreceptor insulin resistance contributes to human dyslipidemia and hepatic steatosis, Journal of Clinical Investigation, vol.119, pp.315-337, 2009. ,
DOI : 10.1172/JCI37432DS1
First Evidence of Genetic Association Between AKT2 and Polycystic Ovary Syndrome, Diabetes Care, vol.31, issue.12, pp.2284-2291, 2008. ,
DOI : 10.2337/dc08-0532
Insulin resistance in women with polycystic ovary syndrome, Fertility and Sterility, vol.86, issue.1, pp.13-17, 2006. ,
DOI : 10.1016/j.fertnstert.2006.04.011
Molecular mechanisms of insulin resistance in polycystic ovary syndrome, Trends in Molecular Medicine, vol.12, issue.7, pp.324-356, 2006. ,
DOI : 10.1016/j.molmed.2006.05.006
Clinical evidence that hyperinsulinaemia independent of gonadotropins stimulates ovarian growth, Clinical Endocrinology, vol.15, issue.1, pp.73-81, 2005. ,
DOI : 10.1210/jc.86.12.5925
Follow-up study of two sisters with type A syndrome of severe insulin resistance gives a new insight into PCOS pathogenesis in relation to puberty and pregnancy outcome: a case report, Human Reproduction, vol.21, issue.5, pp.1274-1282, 2006. ,
DOI : 10.1093/humrep/dei455
Effect of Leptin Replacement on Pituitary Hormone Regulation in Patients with Severe Lipodystrophy, The Journal of Clinical Endocrinology & Metabolism, vol.87, issue.7, pp.3110-3117, 2002. ,
DOI : 10.1210/jcem.87.7.8591
The long-term effect of recombinant methionyl human leptin therapy on hyperandrogenism and menstrual function in female and pituitary function in male and female hypoleptinemic lipodystrophic patients, Metabolism, vol.54, issue.2, pp.255-63, 2005. ,
DOI : 10.1016/j.metabol.2004.08.021
Metabolic Correction Induced by Leptin Replacement Treatment in Young Children With Berardinelli-Seip Congenital Lipoatrophy, PEDIATRICS, vol.120, issue.2, pp.291-297, 2007. ,
DOI : 10.1542/peds.2006-3165
Elevated Plasma Adiponectin in Humans with Genetically Defective Insulin Receptors, The Journal of Clinical Endocrinology & Metabolism, vol.91, issue.8, pp.3219-3242, 2006. ,
DOI : 10.1210/jc.2006-0166
Plasma Adiponectin as a Marker of Insulin Receptor Dysfunction: Clinical utility in severe insulin resistance, Diabetes Care, vol.31, issue.5, pp.977-986, 2008. ,
DOI : 10.2337/dc07-2194
Normal Reproductive Function in Leptin-Deficient Patients with Lipoatropic Diabetes, The Journal of Clinical Endocrinology & Metabolism, vol.85, issue.2, pp.715-724, 2000. ,
DOI : 10.1210/jcem.85.2.6392
Absence of Polycystic Ovary Syndrome Features in Human Immunodeficiency Virus-Infected Women Despite Significant Hyperinsulinemia and Truncal Adiposity, The Journal of Clinical Endocrinology & Metabolism, vol.90, issue.10, pp.5596-604, 2005. ,
DOI : 10.1210/jc.2005-1083
Mutations in Patients with Severe Metabolic Syndrome, The Journal of Clinical Endocrinology & Metabolism, vol.92, issue.12, pp.4835-4879, 2007. ,
DOI : 10.1210/jc.2007-0654
Lipodystrophy, Obstetrics & Gynecology, vol.114, issue.Supplement, pp.427-458, 2009. ,
DOI : 10.1097/AOG.0b013e31819feaa9
Type A Insulin Resistance Syndrome Revealing a Novel Lamin A Mutation, Diabetes, vol.54, issue.6, pp.1873-1881, 2005. ,
DOI : 10.2337/diabetes.54.6.1873